ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.79-11del

dbSNP: rs748715820
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000342189 SCV000457640 uncertain significance Succinyl-CoA acetoacetate transferase deficiency 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000342189 SCV000604583 benign Succinyl-CoA acetoacetate transferase deficiency 2023-11-29 criteria provided, single submitter clinical testing
Invitae RCV000342189 SCV002494869 benign Succinyl-CoA acetoacetate transferase deficiency 2023-08-30 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.